Inherited systematic autoinflammatory conditions

Question 1

What is the genetic basis behind CAPS?

Answer 1

Heredo-familial

Autosomal dominant

Question 2

What are the day to day symptoms of CAPS?

Answer 2

Anaemia

Anterior eye inflammation

Question 3

What are the long-term consequences of CAPS?

Answer 3

Sensorineural deafness

Bone and joint deformities

CNS damage leading to visual loss

AA amyloidosis leading to renal failure

Question 4

What is the source of death in CAPS?

Answer 4

AA amyloidosis leading to renal failure

Question 5

What chromosome is mutated in CAPS?

Answer 5

1q44

Question 6

What gene is mutated in CAPS?

Answer 6

NLRP3

Question 7

What other conditions are related to NLRP3 mutations?

Answer 7

Familial cold urticaria - less severe, shows symptoms in the cold

CINCA - more severe, CNS inflammation and fatal early in life

Question 8

What was the first drug to successfully treat CAPS?

Answer 8

Anakinra

Question 9

How did Anakinra treat CAPS?

Answer 9

Developed normal kidney function

Went from infertile to fertile

Question 10

What is the half-life of Anakinra?

Answer 10

4-6 hours

Question 11

How often must Anakinra be administered?

Answer 11

Daily

Question 12

What is Anakinra?

Answer 12

Recombinant form of the endogenous IL-1Ra

Reduced inflammation

Question 13

What is the role of IL-1Ra in the body?

Answer 13

Blocks IL-1b from binding IL-1b and preventing it from working intracellularly

Question 14

What is IL-1b?

Answer 14

Master molecule in the inflammatory response

Question 15

What is the effect of IL-1b on the hypothalamus?

Answer 15

Induces fatigue, fever and pain sensitization

Question 16

What is the effect of IL-1b on bone?

Answer 16

Releases leucocytes and chemokines from the bone marrow

Induces bone and cartilage resorption in the long run

Question 17

What is the effect og IL-1b on the vascular endothelial cells?

Answer 17

Induces the release of IL-6

Leading to the release of hepatic acute phase proteins